{"orpha":904,"name":"Williams syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Deletion 7q11.23","Monosomy 7q11.23","Williams-Beuren syndrome"],"definition":"A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-904/","orphanet_url":"https://www.orpha.net/en/disease/detail/904","names":{"fr":{"name":"Syndrome de Williams","synonyms":["Délétion 7q11.23","Monosomie 7q11.23","Syndrome de Williams-Beuren"],"definition":"Maladie génétique rare neurodéveloppementale multisystémique caractérisée par une apparence faciale distincte, des anomalies cardiaques (le plus souvent une sténose aortique supravalvulaire), des anomalies cognitives et de développement et des anomalies du tissu conjonctif (par exemple, une laxité articulaire). La dysmorphie faciale se caractérise par un front large, un rétrécissement bitemporal, une plénitude périorbitaire, un iris avec des motifs en étoile et/ou en dentelle, un nez court et retroussé avec une pointe bulbeuse, un long philtrum, une bouche large, des lèvres pleines et une légère micrognathie."},"de":{"name":"Williams-Syndrom","synonyms":["Williams-Beuren-Syndrom"],"definition":"Eine seltene genetisch bedingte, multisystemische neurologische Entwicklungsstörung, die durch ein ausgeprägtes faziales Erscheinungsbild, kardiale Anomalien (am häufigsten supravalvuläre Aortenstenose), kognitive und entwicklungsbedingte Anomalien sowie Bindegewebsanomalien (z. B. Gelenklaxität) gekennzeichnet ist. Zu den Gesichtsdysmorphien gehören eine breite Stirn, eine bitemporale Verengung, eine periorbitale Fülle, eine sternförmige und/oder spitzenförmige Iris, eine kurze, nach oben gebogene Nase mit knolliger Spitze, ein langes Philtrum, einen breiten Mund, volle Lippen und eine leichte Mikrognathie."},"es":{"name":"Síndrome de Williams","synonyms":["Deleción 7q11.23","Monosomía 7q11.23","Síndrome de Williams-Beuren"],"definition":"Es un trastorno multisistémico del neurodesarrollo, poco frecuente y de origen genético, caracterizado por una apariencia facial característica, anomalías cardíacas (siendo la estenosis aórtica supravalvular la más común), anomalías cognitivas, del desarrollo y del tejido conectivo (como laxitud articular). La dismorfia facial se caracteriza por frente amplia, estrechamiento bitemporal, plenitud periorbitaria, patrón estrellado del iris y/o en encaje, nariz corta y con la punta elevada, filtrum largo, boca ancha, labios gruesos y leve micrognatia."},"it":{"name":"Sindrome di Williams","synonyms":["Delezione 7q11.23","Monosomia 7q11.23","Sindrome di Williams-Beuren"],"definition":"La sindrome di Williams è una malattia multisistemica rara del neurosviluppo, di origine genetica, caratterizzata da facies tipica, cardiopatie (in particolare stenosi sopravalvolare dell'aorta), anomalie cognitive, dello sviluppo e del tessuto connettivo (ad es. lassità articolare). I dismorfismi facciali comprendono la fronte ampia, il restringimento bitemporale, la pienezza periorbitale, l'iride stellata e/o ''a pizzo'', il naso corto e rivolto verso l'alto con punta globosa, il filtro lungo, la bocca grande, le labbra carnose e la micrognazia lieve."},"nl":{"name":"Syndroom van Williams","synonyms":["Deletie 7q11.23","Monosomie 7q11.23","Syndroom van Williams-Beuren"],"definition":"Een zeldzame, genetische multisystemische neurologische ontwikkelingsstoornis, gekenmerkt door een typisch uiterlijk van het aangezicht, hartanomalieën (meestal supravalvulaire aortastenose), cognitieve afwijkingen en ontwikkelingsanomalieën, en afwijkingen van bindweefsel (zoals gewrichtslaxiteit). Faciale dysmorfie wordt gekenmerkt door een breed voorhoofd, bitemporale vernauwing, volle periorbitale gebieden, iris met ster- en/of netvormig patroon, korte wipneus met knolvormige punt, lang filtrum, brede mond, volle lippen, en milde micrognathie."},"pt":{"name":"Síndrome Williams","synonyms":["Síndrome Williams-Beuren"],"definition":"Uma doença neurológica multissistémica genética rara, caracterizada por uma aparência facial distinta, anomalias cardíacas (mais frequentemente estenose aórtica supravalvular), anomalias cognitivas e do desenvolvimento e anomalias do tecido conjuntivo (por exemplo, hipermobilidade articular). O dismorfismo facial caracteriza-se por testa larga, estreitamento bitemporal, plenitude periorbitária, padrão de íris estrelado e/ou rendilhado, nariz curto e arrebitado com ponta bulbosa, filtro longo, boca larga, lábios carnudos e micrognatia ligeira."},"pl":{"name":"Zespół Williamsa","synonyms":["Delecja 7q11.23","Monosomia 7q11.23","Zespół Williamsa i Beurena"],"definition":"Rzadkie, genetycznie uwarunkowane wieloukładowe zaburzenie neurorozwojowe, które charakteryzujące się odrębnym wyglądem twarzy, wadami serca (najczęściej nazastawkowym zwężeniem aorty), zaburzeniami poznawczymi i rozwojowymi oraz nieprawidłowościami tkanki łącznej (np. wiotkością stawów). Dysmorfia twarzy obejmuje szerokie czoło zwężenie dwuskroniowe, pełność wokół oczodołów, gwiaździsty i/lub koronkowy wzór na tęczówce, krótki zadarty nos z bulwiastą końcówką, długą rynienkę, szerokie usta, pełne wargi oraz łagodną mikrognacją."},"cs":{"name":"Williamsův syndrom","synonyms":["Delece 7q11.23","Monozomie 7q11.23","Williamsův-Beurenův syndrom","Williams-Beurenův syndrom"]},"uk":{"name":"Синдром Вільямса","synonyms":["Делеція 7q11.23","Моносомія 7q11.23","Синдром Вільямса-Борена"],"definition":"A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia."},"zh":{"name":"威廉斯综合征","synonyms":["Williams-Beuren综合征"]},"tr":{"name":"Williams sendromu","synonyms":["Delesyon 7q11.23","Monozomi 7q11.23","Williams-Beuren sendromu"]}},"xrefs":[{"source":"OMIM","code":"194050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD44.70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1644383468"},{"source":"MONDO","code":"0008678","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0175702","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7891","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10049644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":306765,"name":"Motor stereotypies","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":262056,"name":"Partial deletion of the long arm of chromosome 7 syndrome","classifications":[147,156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"DNAJC30","name":"DnaJ heat shock protein family (Hsp40) member C30","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"16410","ensembl":"ENSG00000176410","omim":"618202","loci":["7q11.23"]},{"symbol":"RFC2","name":"replication factor C subunit 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"20301427[PMID]","hgnc":"9970","ensembl":"ENSG00000049541","omim":"600404","loci":["7q11.23"]},{"symbol":"BAZ1B","name":"bromodomain adjacent to zinc finger domain 1B","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"961","ensembl":"ENSG00000009954","omim":"605681","loci":["7q11.23"]},{"symbol":"BUD23","name":"BUD23 rRNA methyltransferase and ribosome maturation factor","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"11978965[PMID]","hgnc":"16405","ensembl":"ENSG00000071462","omim":"615733","loci":["7q11.23"]},{"symbol":"CLIP2","name":"CAP-Gly domain containing linker protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"2586","ensembl":"ENSG00000106665","omim":"603432","loci":["7q11.23"]},{"symbol":"EIF4H","name":"eukaryotic translation initiation factor 4H","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"8812460[PMID]","hgnc":"12741","ensembl":"ENSG00000106682","omim":"603431","loci":["7q11.23"]},{"symbol":"ELN","name":"elastin","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"3327","ensembl":"ENSG00000049540","omim":"130160","loci":["7q11.23"]},{"symbol":"FKBP6","name":"FKBP prolyl isomerase family member 6 (inactive)","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9782077[PMID]","hgnc":"3722","ensembl":"ENSG00000077800","omim":"604839","loci":["7q11.23"]},{"symbol":"GTF2I","name":"general transcription factor IIi","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"4659","ensembl":"ENSG00000263001","omim":"601679","loci":["7q11.23"]},{"symbol":"GTF2IRD1","name":"GTF2I repeat domain containing 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"4661","ensembl":"ENSG00000006704","omim":"604318","loci":["7q11.23"]},{"symbol":"GTF2IRD2","name":"GTF2I repeat domain containing 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"15243160[PMID]","hgnc":"30775","ensembl":"ENSG00000196275","omim":"608899","loci":["7q11.23"]},{"symbol":"LIMK1","name":"LIM domain kinase 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"6613","ensembl":"ENSG00000106683","omim":"601329","loci":["7q11.23"]},{"symbol":"METTL27","name":"methyltransferase like 27","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18398435[PMID]","hgnc":"19068","ensembl":"ENSG00000165171","omim":"612546","loci":["7q11.23"]},{"symbol":"NCF1","name":"neutrophil cytosolic factor 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9311751[PMID]","hgnc":"7660","ensembl":"ENSG00000158517","omim":"608512","loci":["7q11.23"]},{"symbol":"STX1A","name":"syntaxin 1A","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"9311751[PMID]","hgnc":"11433","ensembl":"ENSG00000106089","omim":"186590","loci":["7q11.23"]},{"symbol":"TBL2","name":"transducin beta like 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20301427[PMID]","hgnc":"11586","ensembl":"ENSG00000106638","omim":"605842","loci":["7q11.23"]},{"symbol":"TMEM270","name":"transmembrane protein 270","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"18398435[PMID]","hgnc":"23018","ensembl":"ENSG00000175877","omim":"612547","loci":["7q11.23"]},{"symbol":"VPS37D","name":"VPS37D subunit of ESCRT-I","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"19897463[PMID]","hgnc":"18287","ensembl":"ENSG00000176428","omim":"610039","loci":["7q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":13.3,"area":"Norway","status":"Validated","source":"12088082[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Hong Kong","status":"Validated","source":"14967851[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":13.3,"area":"Norway","status":"Validated","source":"12088082[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Hong Kong","status":"Validated","source":"14967851[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012639","label":"Abnormal nervous system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000464","label":"Abnormality of the neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010526","label":"Dysgraphia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004428","label":"Elfin facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010780","label":"Hyperacusis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000275","label":"Narrow face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100025","label":"Overfriendliness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002183","label":"Phonophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000179","label":"Thick lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100659","label":"Abnormality of the cerebral vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100545","label":"Arterial stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002253","label":"Colonic diverticula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200021","label":"Down-sloping shoulders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001361","label":"Nystagmus-induced head nodding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000125","label":"Pelvic kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004969","label":"Peripheral pulmonary artery stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100817","label":"Renovascular hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000960","label":"Sacral dimple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004381","label":"Supravalvular aortic stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid 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